Molecular Genetic Testing of CGG Repeat Expansions in Fragile X Syndrome

Tracking # 20-1199502

$85.00

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Educator AMERICAN COLLEGE OF MEDICAL GENETICS

CE Broker Reporting Reported automatically

Method Computer-Based Training

Course overview

This module is an overview of the ACMG technical standards for molecular genetic testing of CGG repeat expansions in the 5-untranslated region of the FMR1 gene. It is designed to cover Southern blot analysis and or polymerase chain reaction (PCR) amplification of FMR1 (triplet repeat-primed and methylation specific PCR). However, this module does not address non-CGG repeat expansion variants and AGG interruptions in the FMR1 gene. It is designed for clinical laboratory geneticists who are familiar with FMR1-related disorders and the methods of analysis. Clinical diagnosis, management, and counseling are beyond the scope of this module. Clinical laboratory geneticists are asked to choose 5 male and 5 female cases of fragile X testing that were signed out in your laboratory within the past two years. For each case, answer the questions below regarding the work-up of the cases

Subject areas

This course counts toward the state boards and subject areas below.

Florida Board of Clinical Laboratory Personnel

Clinical Laboratory Director

1h General (Molecular Pathology)

Clinical Laboratory Supervisor

1h General (Molecular Pathology)

Clinical Laboratory Technician

1h General (Molecular Pathology)

Clinical Laboratory Technologist

1h General (Molecular Pathology)

Public Health Director

1h General (Molecular Pathology)

Public Health Supervisor

1h General (Molecular Pathology)

Public Health Technologist

1h General (Molecular Pathology)

Disclosure statements

All of the relevant financial relationships listed for these individuals have been mitigated.

Name Role Financial Disclosure for 24 months

Aypar, Umut CCP Committee No Relevant Financial Relationships

Bacino, Carlos ABMGG Liaison Consultant: Best Doctors, Inc.; Royalties: UpToDate

Balciuniene, Jorune CCP Committee / Author Employee: PerkinElmer Genomics

Barnett, Claudia Staff No Relevant Financial Relationships

Blitzer, Miriam ABMGG Liaison No Relevant Financial Relationships

Dipple, Katrina ABMGG Liaison No Relevant Financial Relationships

Falah, Nadia CCP Committee No Relevant Financial Relationships

Fan, Jinbo CCP Committee / Author No Relevant Financial Relationships

Gates, Ryan CCP Committee No Relevant Financial Relationships

Iverson, Ayuko CCP Committee Co-Chair No Relevant Financial Relationships

Kallish, Staci CCP Committee Grant: Idorsia, Incyte Corp, Ipsen Biopharmaceuticals, Inc., Sanofi; Consultant: Sanofi

King, Kristine CCP Committee No Relevant Financial Relationships

Landau, Kevin CCP Committee No Relevant Financial Relationships

Lee, Kristin CCP Committee No Relevant Financial Relationships

Liu, Jie CCP Committee / Author No Relevant Financial Relationships

Madankumar, Rajeevi CCP Committee No Relevant Financial Relationships

Pekarek, Dawn CCP Committee No Relevant Financial Relationships

Powell, Cynthia ACMG Board of Directors Liaison No Relevant Financial Relationships

Radford, Jane Staff No Relevant Financial Relationships

Stauffer, Brandon CCP Committee Consultant: Halide Biologics

Tortorelli, Silvia CCP Committee No Relevant Financial Relationships

Velagaleti, Gopalrao CCP Committee Chair No Relevant Financial Relationships

Whelan, Colleen Staff No Relevant Financial Relationships